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S H Subramony
S H Subramony
Professor of Neurology and Pediatrics, University of Florida College of Medicine
在 neurology.ufl.edu 的电子邮件经过验证
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引用次数
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ...
Nature genetics 15 (1), 62-69, 1997
19011997
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome
P Trouillas, T Takayanagi, M Hallett, RD Currier, SH Subramony, ...
Journal of the neurological sciences 145 (2), 205-211, 1997
14201997
Mutations in Kir2. 1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
NM Plaster, R Tawil, M Tristani-Firouzi, S Canún, S Bendahhou, ...
Cell 105 (4), 511-519, 2001
11892001
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ...
Neuron 19 (2), 333-344, 1997
10091997
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
T Zu, Y Liu, M Bañez-Coronel, T Reid, O Pletnikova, J Lewis, TM Miller, ...
Proceedings of the National Academy of Sciences 110 (51), E4968-E4977, 2013
8582013
Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale
SH Subramony, W May, D Lynch, C Gomez, K Fischbeck, M Hallett, ...
Neurology 64 (7), 1261-1262, 2005
3742005
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
KP Patel, TW O'Brien, SH Subramony, J Shuster, PW Stacpoole
Molecular genetics and metabolism 106 (3), 385-394, 2012
3682012
A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness
H Jin, M May, L Tranebjærg, E Kendall, G Fontán, J Jackson, ...
Nature genetics 14 (2), 177-180, 1996
2961996
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial
EJ Sorenson, AJ Windbank, JN Mandrekar, WR Bamlet, SH Appel, ...
Neurology 71 (22), 1770-1775, 2008
2782008
Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
SS Chong, AE McCall, J Cota, SH Subramony, HT Orr, MR Hughes, ...
Nature genetics 10 (3), 344-350, 1995
2351995
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset
LPW Ranum, MY Chung, S Banfi, A Bryer, LJ Schut, R Ramesar, ...
American journal of human genetics 55 (2), 244, 1994
2231994
Measuring Friedreich ataxia: complementary features of examination and performance measures
DR Lynch, JM Farmer, AY Tsou, S Perlman, SH Subramony, CM Gomez, ...
Neurology 66 (11), 1711-1716, 2006
2082006
Dystrophinopathy in isolated cases of myopathy in females
EP Hoffman, K Arahata, C Minetti, E Bonilla, LP Rowland, C Angelini, ...
Neurology 42 (5), 967-967, 1992
1891992
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
P Hogarth, A Gregory, MC Kruer, L Sanford, W Wagoner, MR Natowicz, ...
Neurology 80 (3), 268-275, 2013
1822013
Consensus-based care recommendations for adults with myotonic dystrophy type 1
T Ashizawa, C Gagnon, WJ Groh, L Gutmann, NE Johnson, G Meola, ...
Neurology: Clinical Practice 8 (6), 507-520, 2018
1712018
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
PC Scacheri, EP Hoffman, JD Fratkin, C Semino–Mora, A Senchak, ...
Neurology 55 (11), 1689-1696, 2000
1672000
Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study)
DR Lynch, MP Chin, MB Delatycki, SH Subramony, M Corti, JC Hoyle, ...
Annals of neurology 89 (2), 212-225, 2021
1662021
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
T Ashizawa, KP Figueroa, SL Perlman, CM Gomez, GR Wilmot, ...
Orphanet journal of rare diseases 8, 1-8, 2013
1582013
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation …
TA Zesiewicz, G Wilmot, SH Kuo, S Perlman, PE Greenstein, SH Ying, ...
Neurology 90 (10), 464-471, 2018
1512018
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia
DR Lynch, J Farmer, L Hauser, IA Blair, QQ Wang, C Mesaros, N Snyder, ...
Annals of clinical and translational neurology 6 (1), 15-26, 2019
1362019
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